Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
1 review
Sarah Leigh (Genomics England Curator)
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:23 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
- Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
- Cardiomyopathy, dilated, 1X, 611615
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
- Limb-girdle muscular dystrophy
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1408/
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Malformations of cortical development
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Arthrogryposis
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen Thomas (Genomics England Curator)Publications for FKTN were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen